Publications:

---

Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis.

Nature Communications

Sirvent, Sofia S; Vallejo, Andres F AF; Corden, Emma E; Teo, Ying Y; Davies, James J; Clayton, Kalum K; Seaby, Eleanor G EG; Lai, Chester C; Ennis, Sarah S; Alyami, Rfeef R; Douilhet, Gemma G; Dean, Lareb S N LSN; Loxham, Matthew M; Horswill, Sarah S; Healy, Eugene E; Roberts, Graham G; Hall, Nigel J NJ; Friedmann, Peter S PS; Singh, Harinder H; Bennett, Clare L CL; Ardern-Jones, Michael R MR; Polak, Marta E ME

Publication Date: 2023-05-19

Variant appearance in text: FLG: S3247X

PubMed Link: 37208336

Variant Present in the following documents:

• Main text
• 41467_2023_Article_38588.pdf

View BVdb publication page

---

In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.

Frontiers In Molecular Biosciences

Paul, Argho Aninda AA; Szulc, Natalia A NA; Kobiela, Adrian A; Brown, Sara J SJ; Pokrzywa, Wojciech W; Gutowska-Owsiak, Danuta D

Publication Date: 2023

Variant appearance in text: N/A

PubMed Link: 37200867

Variant Present in the following documents:

View BVdb publication page

---

Overview of Atopic Dermatitis in Different Ethnic Groups.

Journal Of Clinical Medicine

Chiricozzi, Andrea A; Maurelli, Martina M; Calabrese, Laura L; Peris, Ketty K; Girolomoni, Giampiero G

Publication Date: 2023-04-04

Variant appearance in text: FLG: S3247X

PubMed Link: 37048783

Variant Present in the following documents:

• Main text
• jcm-12-02701.pdf

View BVdb publication page

---

A small proline-rich protein (SPRR) gene variant contributes to atopic eczema and eczema-associated asthma susceptibility.

Postepy Dermatologii I Alergologii

Dębińska, Anna A; Danielewicz, Hanna H; Boznański, Andrzej A; Matusiak, Łukasz Ł; Szepietowski, Jacek C JC

Publication Date: 2022-10

Variant appearance in text: FLG: S3247X

PubMed Link: 36457670

Variant Present in the following documents:

• Main text
• PDIA-39-46316.pdf

View BVdb publication page

---

Biomarkers associated with the development of comorbidities in patients with atopic dermatitis: a systematic review.

Allergy

Broderick, Conor C; Ziehfreund, Stefanie S; van Bart, Karin K; Arents, Bernd B; Eyerich, Kilian K; Weidinger, Stephan S; Rastrick, Joseph J; Zink, Alexander A; Flohr, Carsten C; ,

Publication Date: 2022-11-10

Variant appearance in text: FLG: S3247X

PubMed Link: 36366871

Variant Present in the following documents:

• Main text
• ALL-78-84.pdf

View BVdb publication page

---

Genetic Variants in Epidermal Differentiation Complex Genes as Predictive Biomarkers for Atopic Eczema, Allergic Sensitization, and Eczema-Associated Asthma in a 6-Year Follow-Up Case-Control Study in Children.

Journal Of Clinical Medicine

Dębińska, Anna A; Danielewicz, Hanna H; Sozańska, Barbara B

Publication Date: 2022-08-19

Variant appearance in text: FLG: S3247X

PubMed Link: 36013110

Variant Present in the following documents:

• Main text
• jcm-11-04865.pdf

View BVdb publication page

---

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: N/A

PubMed Link: 35768426

Variant Present in the following documents:

View BVdb publication page

---

Factors associated with severity of atopic dermatitis - a Finnish cross-sectional study.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv

Salava, A A; Salo, V V; Leppänen, J J; Lauerma, A A; Remitz, A A

Publication Date: 2022-11

Variant appearance in text: FLG: S3247X

PubMed Link: 35766133

Variant Present in the following documents:

• Main text
• JDV-36-2130.pdf

View BVdb publication page

---

Early-life predictors and risk factors of peanut allergy, and its association with asthma in later-life: Population-based birth cohort study.

Clinical And Experimental Allergy : Journal Of The British Society For Allergy And Clinical Immunology

Kotsapas, Constantinos C; Nicolaou, Nicolaos N; Haider, Sadia S; Kerry, Gina G; Turner, Paul J PJ; Murray, Clare S CS; Simpson, Angela A; Custovic, Adnan A

Publication Date: 2022-05

Variant appearance in text: FLG: S3247X

PubMed Link: 35108754

Variant Present in the following documents:

• Main text
• CEA-52-646.pdf

View BVdb publication page

---

Proportions of Polyunsaturated Fatty Acids in Umbilical Cord Blood at Birth Are Related to Atopic Eczema Development in the First Year of Life.

Nutrients

Barman, Malin M; Stråvik, Mia M; Broberg, Karin K; Sandin, Anna A; Wold, Agnes E AE; Sandberg, Ann-Sofie AS

Publication Date: 2021-10-25

Variant appearance in text: FLG: S3247X

PubMed Link: 34836034

Variant Present in the following documents:

• Main text
• nutrients-13-03779.pdf

View BVdb publication page

---

Comparison of Epidermal Barrier Integrity in Adults with Classic Atopic Dermatitis, Atopic Prurigo and Non-Atopic Prurigo Nodularis.

Biology

Fölster-Holst, Regina R; Reimer, Rahel R; Neumann, Claudia C; Proksch, Erhardt E; Rodriguez, Elke E; Weidinger, Stephan S; Goldust, Mohamad M; Hanisch, Eckhard E; Dähnhardt-Pfeiffer, Stephan S; Freitag-Wolf, Sandra S

Publication Date: 2021-10-07

Variant appearance in text: FLG: S3247X

PubMed Link: 34681107

Variant Present in the following documents:

• Main text
• biology-10-01008.pdf

View BVdb publication page

---

Very Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases.

Case Reports In Immunology

Chin, A A; Balasubramanyam, S S; Davis, C M CM

Publication Date: 2021

Variant appearance in text: FLG: 9740C>A; S3247X

PubMed Link: 34603803

Variant Present in the following documents:

• CRII2021-2767012.pdf

View BVdb publication page

---

Moisturisers from birth in at-risk infants of atopic dermatitis - a pragmatic randomised controlled trial.

The Australasian Journal Of Dermatology

Ng, Pamela Si Min PSM; Wee, Lynette Wei Yi LWY; Ho, Valerie Pui Yoong VPY; Tan, Weixuan Colin WC; Bishnoi, Priya P; Alagappan, Uma U; Wong, Sharon Mun Yee SMY; Gan, Emily Yiping EY; Quek, Bin Huey BH; Shen, Liang L; Su, Bing B; Common, John Ea JE; Koh, Mark Jean Aan MJA

Publication Date: 2021-11

Variant appearance in text: FLG: S3247X

PubMed Link: 34424533

Variant Present in the following documents:

• Main text
• AJD-62-e539.pdf

View BVdb publication page

---

Filaggrin gene mutations with special reference to atopic dermatitis.

Current Treatment Options In Allergy

Gupta, Jayanta J; Margolis, David J DJ

Publication Date: 2020-09

Variant appearance in text: N/A

PubMed Link: 33585163

Variant Present in the following documents:

View BVdb publication page

---

Filaggrin Loss-of-Function Mutations Are Risk Factors for Severe Food Allergy in Children with Atopic Dermatitis.

Journal Of Clinical Medicine

Astolfi, Annalisa A; Cipriani, Francesca F; Messelodi, Daria D; De Luca, Matilde M; Indio, Valentina V; Di Chiara, Costanza C; Giannetti, Arianna A; Ricci, Lorenza L; Neri, Iria I; Patrizi, Annalisa A; Ricci, Giampaolo G; Pession, Andrea A

Publication Date: 2021-01-11

Variant appearance in text: N/A

PubMed Link: 33440636

Variant Present in the following documents:

View BVdb publication page

---

Filaggrin Polymorphisms and the Uptake of Chemicals through the Skin-A Human Experimental Study.

Environmental Health Perspectives

Rietz Liljedahl, Emelie E; Johanson, Gunnar G; Korres de Paula, Helena H; Faniband, Moosa M; Assarsson, Eva E; Littorin, Margareta M; Engfeldt, Malin M; Lidén, Carola C; Julander, Anneli A; Wahlberg, Karin K; Lindh, Christian C; Broberg, Karin K

Publication Date: 2021-01

Variant appearance in text: FLG: S3247X

PubMed Link: 33439052

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Topical corticosteroids normalize both skin and systemic inflammatory markers in infant atopic dermatitis.

The British Journal Of Dermatology

McAleer, M A MA; Jakasa, I I; Stefanovic, N N; McLean, W H I WHI; Kezic, S S; Irvine, A D AD

Publication Date: 2021-07

Variant appearance in text: FLG: S3247X

PubMed Link: 33269467

Variant Present in the following documents:

• Main text
• BJD-185-153.pdf

View BVdb publication page

---

Mutations of filament-aggregating protein gene in Romanian children diagnosed with atopic dermatitis.

Experimental And Therapeutic Medicine

Chiriac, Anca E AE; Popescu, Roxana R; Butnariu, Lăcrămioara L; Murgu, Alina A; Foia, Liliana L; Azoicai, Doina D

Publication Date: 2020-12

Variant appearance in text: FLG: S3247X

PubMed Link: 33149776

Variant Present in the following documents:

• Main text
• etm-20-06-09343.pdf

View BVdb publication page

---

Causal Analysis Shows Evidence of Atopic Dermatitis Leading to an Increase in Vitamin D Levels.

The Journal Of Investigative Dermatology

Drodge, Daniel R DR; Budu-Aggrey, Ashley A; Paternoster, Lavinia L

Publication Date: 2021-05

Variant appearance in text: N/A

PubMed Link: 33069727

Variant Present in the following documents:

View BVdb publication page

---

Changes in nano-mechanical properties of human epidermal cornified cells in children with atopic dermatitis.

Wellcome Open Research

Haftek, Marek M; McAleer, Maeve A MA; Jakasa, Ivone I; McLean, Wh Irwin WI; Kezic, Sanja S; Irvine, Alan D AD

Publication Date: 2020

Variant appearance in text: FLG: S3247X

PubMed Link: 32954014

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic and Epigenetic Aspects of Atopic Dermatitis.

International Journal Of Molecular Sciences

Nedoszytko, Bogusław B; Reszka, Edyta E; Gutowska-Owsiak, Danuta D; Trzeciak, Magdalena M; Lange, Magdalena M; Jarczak, Justyna J; Niedoszytko, Marek M; Jablonska, Ewa E; Romantowski, Jan J; Strapagiel, Dominik D; Skokowski, Jarosław J; Siekierzycka, Anna A; Nowicki, Roman J RJ; Dobrucki, Iwona T IT; Zaryczańska, Anna A; Kalinowski, Leszek L

Publication Date: 2020-09-04

Variant appearance in text: FLG: S3247X

PubMed Link: 32899887

Variant Present in the following documents:

• Main text
• ijms-21-06484.pdf

View BVdb publication page

---

Rare occurrence of common filaggrin mutations in Turkish children with food allergy and atopic dermatitis

Turkish Journal Of Medical Sciences

Vardar Acar, Neşe N; Cavkaytar, Özlem Ö; Arik Yilmaz, Ebru E; Büyüktiryaki, Ayşe Betül AB; Uysal Soyer, Özge Ö; Şahiner, Ümit Murat ÜM; Şekerel, Bülent Enis BE; Karaaslan, Ibrahim Çağatay IÇ; Saçkesen, Cansin C

Publication Date: 2020-12-17

Variant appearance in text: FLG: S3247X

PubMed Link: 32536107

Variant Present in the following documents:

• Main text
• turkjmedsci-50-1865.pdf

View BVdb publication page

---

Chromosome 11q13.5 variant as a risk factor for atopic dermatitis in children.

Postepy Dermatologii I Alergologii

Dêbiñska, Anna A; Danielewicz, Hanna H; Drabik-Chamerska, Anna A; Kalita, Danuta D; Boznañski, Andrzej A

Publication Date: 2020-02

Variant appearance in text: FLG: S3247X

PubMed Link: 32467693

Variant Present in the following documents:

• Main text
• PDIA-37-93388.pdf

View BVdb publication page

---

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Cold Spring Harbor Molecular Case Studies

Thiffault, Isabelle I; Atherton, Andrea A; Heese, Bryce A BA; T Abdelmoity, Ahmed A; Pawar, Kailash K; Farrow, Emily E; Zellmer, Lee L; Miller, Neil N; Soden, Sarah S; Saunders, Carol C

Publication Date: 2020-06

Variant appearance in text: FLG: 9740C>A; S3247*; rs150597413

PubMed Link: 32358097

Variant Present in the following documents:

• supp_mcs.a003970_Supplemental_Table.xlsx, sheet 4

View BVdb publication page

---

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: FLG: 9740C>A; Ser3247Ter

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Daily emollient during infancy for prevention of eczema: the BEEP randomised controlled trial.

Lancet (London, England)

Chalmers, Joanne R JR; Haines, Rachel H RH; Bradshaw, Lucy E LE; Montgomery, Alan A AA; Thomas, Kim S KS; Brown, Sara J SJ; Ridd, Matthew J MJ; Lawton, Sandra S; Simpson, Eric L EL; Cork, Michael J MJ; Sach, Tracey H TH; Flohr, Carsten C; Mitchell, Eleanor J EJ; Swinden, Richard R; Tarr, Stella S; Davies-Jones, Susan S; Jay, Nicola N; Kelleher, Maeve M MM; Perkin, Michael R MR; Boyle, Robert J RJ; Williams, Hywel C HC; ,

Publication Date: 2020-03-21

Variant appearance in text: FLG: S3247X

PubMed Link: 32087126

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Progression of acute-to-chronic atopic dermatitis is associated with quantitative rather than qualitative changes in cytokine responses.

The Journal Of Allergy And Clinical Immunology

Tsoi, Lam C LC; Rodriguez, Elke E; Stölzl, Dora D; Wehkamp, Ulrike U; Sun, Jingru J; Gerdes, Sascha S; Sarkar, Mrinal K MK; Hübenthal, Matthias M; Zeng, Chang C; Uppala, Ranjitha R; Xing, Xianying X; Thielking, Frederieke F; Billi, Allison C AC; Swindell, William R WR; Shefler, Alanna A; Chen, Jiahan J; Patrick, Matthew T MT; Harms, Paul W PW; Kahlenberg, J Michelle JM; Perez White, Bethany E BE; Maverakis, Emanual E; Gudjonsson, Johann E JE; Weidinger, Stephan S

Publication Date: 2020-05

Variant appearance in text: N/A

PubMed Link: 31891686

Variant Present in the following documents:

View BVdb publication page

---

Effect of immunosuppressive treatment on biomarkers in adult atopic dermatitis patients.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv

Roekevisch, E E; Szegedi, K K; Hack, D P DP; Schram, M E ME; Res, P C J M PCJM; Bos, J D JD; Leeflang, M M G MMG; Luiten, R M RM; Kezic, S S; Spuls, P I PI; Middelkamp-Hup, M A MA

Publication Date: 2020-07

Variant appearance in text: FLG: S3247X

PubMed Link: 31855303

Variant Present in the following documents:

• Main text
• JDV-34-1545.pdf

View BVdb publication page

---

Proteomic analysis of a filaggrin-deficient skin organoid model shows evidence of increased transcriptional-translational activity, keratinocyte-immune crosstalk and disordered axon guidance.

Wellcome Open Research

Elias, Martina S MS; Wright, Sheila C SC; Nicholson, William V WV; Morrison, Kimberley D KD; Prescott, Alan R AR; Ten Have, Sara S; Whitfield, Phillip D PD; Lamond, Angus I AI; Brown, Sara J SJ

Publication Date: 2019

Variant appearance in text: FLG: S3247X

PubMed Link: 31641698

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Early-life inhalant allergen exposure, filaggrin genotype, and the development of sensitization from infancy to adolescence.

The Journal Of Allergy And Clinical Immunology

Simpson, Angela A; Brough, Helen A HA; Haider, Sadia S; Belgrave, Danielle D; Murray, Clare S CS; Custovic, Adnan A

Publication Date: 2020-03

Variant appearance in text: FLG: S3247X

PubMed Link: 31629803

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: FLG: 9740C>A; Ser3247*; rs150597413

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.

Human Molecular Genetics

Johansson, Åsa Å; Rask-Andersen, Mathias M; Karlsson, Torgny T; Ek, Weronica E WE

Publication Date: 2019-12-01

Variant appearance in text: FLG: S3247X

PubMed Link: 31361310

Variant Present in the following documents:

• Main text
• ddz175.pdf

View BVdb publication page

---

Clinical onset of atopic eczema: Results from 2 nationally representative British birth cohorts followed through midlife.

The Journal Of Allergy And Clinical Immunology

Abuabara, Katrina K; Ye, Morgan M; McCulloch, Charles E CE; Sullivan, Alice A; Margolis, David J DJ; Strachan, David P DP; Paternoster, Lavinia L; Yew, Yik Weng YW; Williams, Hywel C HC; Langan, Sinéad M SM

Publication Date: 2019-09

Variant appearance in text: N/A

PubMed Link: 31260715

Variant Present in the following documents:

View BVdb publication page

---

Filaggrin and atopic march.

Biochemia Medica

Čepelak, Ivana I; Dodig, Slavica S; Pavić, Ivan I

Publication Date: 2019-06-15

Variant appearance in text: N/A

PubMed Link: 31223255

Variant Present in the following documents:

View BVdb publication page

---

Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Bmc Cancer

Shahi, Rajendra Bahadur RB; De Brakeleer, Sylvia S; Caljon, Ben B; Pauwels, Ingrid I; Bonduelle, Maryse M; Joris, Sofie S; Fontaine, Christel C; Vanhoeij, Marian M; Van Dooren, Sonia S; Teugels, Erik E; De Grève, Jacques J

Publication Date: 2019-04-04

Variant appearance in text: FLG: 9740C>A; Ser3247*

PubMed Link: 30947698

Variant Present in the following documents:

• 12885_2019_5494_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

---

Most associations of early-life environmental exposures and genetic risk factors poorly differentiate between eczema phenotypes: the Generation R Study.

The British Journal Of Dermatology

Hu, C C; Duijts, L L; Erler, N S NS; Elbert, N J NJ; Piketty, C C; Bourdès, V V; Blanchet-Réthoré, S S; de Jongste, J C JC; Pasmans, S G M A SGMA; Felix, J F JF; Nijsten, T T

Publication Date: 2019-12

Variant appearance in text: FLG: S3247X

PubMed Link: 30869802

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Different definitions of atopic dermatitis: impact on prevalence estimates and associated risk factors.

The British Journal Of Dermatology

Nakamura, T T; Haider, S S; Colicino, S S; Murray, C S CS; Holloway, J J; Simpson, A A; Cullinan, P P; Custovic, A A; ,

Publication Date: 2019-12

Variant appearance in text: FLG: S3247X

PubMed Link: 30822368

Variant Present in the following documents:

• Main text
• BJD-181-1272.pdf

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: N/A

PubMed Link: 30665703

Variant Present in the following documents:

View BVdb publication page

---

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: N/A

PubMed Link: 30380422

Variant Present in the following documents:

View BVdb publication page

---

Breastfeeding duration modifies the effect of smoking during pregnancy on eczema from early childhood to adolescence.

Clinical And Experimental Allergy : Journal Of The British Society For Allergy And Clinical Immunology

Mukherjee, Nandini N; Sutter, Thomas R TR; Arshad, Syed Hasan SH; Holloway, John W JW; Zhang, Hongmei H; Karmaus, Wilfried W

Publication Date: 2018-12

Variant appearance in text: N/A

PubMed Link: 30311981

Variant Present in the following documents:

View BVdb publication page

---

Systemic and stratum corneum biomarkers of severity in infant atopic dermatitis include markers of innate and T helper cell-related immunity and angiogenesis.

The British Journal Of Dermatology

McAleer, M A MA; Jakasa, I I; Hurault, G G; Sarvari, P P; McLean, W H I WHI; Tanaka, R J RJ; Kezic, S S; Irvine, A D AD

Publication Date: 2019-03

Variant appearance in text: FLG: S3247X

PubMed Link: 30132823

Variant Present in the following documents:

• Main text
• BJD-180-586.pdf

View BVdb publication page

---